Canonical Allele Identifier: CA605054212

Gene: SCN8A

Linked Data

• dbSNP Id: rs1300718444
• gnomAD v2: 12-52201262-A-AGAT
• gnomAD v3: 12-51807478-A-AGAT
• gnomAD v4: 12-51807478-A-AGAT
• MyVariant Identifiers: chr12:g.52201262_52201263insGAT (hg19) ; chr12:g.51807478_51807479insGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807479_51807481dup , CM000674.2:g.51807479_51807481dup	GRCh38
NC_000012.11:g.52201263_52201265dup , CM000674.1:g.52201263_52201265dup	GRCh37
NC_000012.10:g.50487530_50487532dup	NCBI36
NG_021180.2:g.221244_221246dup
NG_021180.3:g.222522_222524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*50_*52dup MANE Plus Clinical	ENSP00000346534.4:n.*50_*52dup
ENST00000627620.5:c.*50_*52dup MANE Select	ENSP00000487583.2:n.*50_*52dup
ENST00000662684.1:c.*50_*52dup	ENSP00000499636.1:n.*50_*52dup
ENST00000668547.1:c.*50_*52dup	ENSP00000499691.1:n.*50_*52dup
ENST00000354534.10:c.*50_*52dup	ENSP00000346534.4:n.*50_*52dup
ENST00000545061.5:c.*50_*52dup	ENSP00000440360.1:n.*50_*52dup
NM_001177984.2:c.*50_*52dup	NP_001171455.1:n.*50_*52dup
NM_014191.3:c.*50_*52dup	NP_055006.1:n.*50_*52dup
XM_006719556.2:c.*50_*52dup	XP_006719619.1:n.*50_*52dup
XM_011538650.1:c.*50_*52dup	XP_011536952.1:n.*50_*52dup
XM_011538651.1:c.*50_*52dup	XP_011536953.1:n.*50_*52dup
NM_001330260.1:c.*50_*52dup	NP_001317189.1:n.*50_*52dup
XM_006719556.4:c.*50_*52dup	XP_006719619.1:n.*50_*52dup
XM_011538651.3:c.*50_*52dup	XP_011536953.1:n.*50_*52dup
XM_017019794.2:c.*50_*52dup	XP_016875283.1:n.*50_*52dup
XM_017019795.2:c.*50_*52dup	XP_016875284.1:n.*50_*52dup
NM_001330260.2:c.*50_*52dup MANE Select	NP_001317189.1:n.*50_*52dup
NM_001369788.1:c.*50_*52dup	NP_001356717.1:n.*50_*52dup
NM_014191.4:c.*50_*52dup MANE Plus Clinical	NP_055006.1:n.*50_*52dup
NM_001177984.3:c.*50_*52dup	NP_001171455.1:n.*50_*52dup